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Fact Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… cells - keep their mitochondria during fertilization. So, mitochondrial DNA is always inherited from the female parent. …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… Dr. Hakonarson said.  Genes that play a role in fat metabolism. Dr. Hakonarson also led a study that examined LOF variants in a gene, PCSK9 , which plays a role in fat metabolism. Those with LOF variants in this gene may have low …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… sequencing and the use of a simple method for extracting mitochondrial sequence data from nuclear exome sequencing. … CK, Palmieri F, Biesecker LG. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… Hofherr S, Richard G, Suchy SF. Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans . Genet Med . 2021 …
News Release
Charles Rotimi, Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in biomedical research and an interest in translating these findings to advance human health.
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… in PCOS theca cells. Journal of Clinical Endocrinology and Metabolism , 90 (12): 6596-6602. 2005. [ PubMed ] Stewart DR, … regulatory activity. Journal of Clinical Endocrinology and Metabolism , 91 (10): 4112-4117. 2006. [ PubMed ] Stewart DR, … ovary syndrome. Journal of Clinical Endocrinology and Metabolism , 95(5): 2306-2315. 2010. [ PubMed ] Stewart DR, …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… oculocutaneous albinism and disorders of free sialic acid metabolism. Dr. Adams conducted an albinism natural history …
News Release
The National Human Genome Research Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of Intramural Research.